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RBMY1E RNA binding motif protein Y-linked family 1 member E [ Homo sapiens (human) ]

Gene ID: 378950, updated on 3-Apr-2024

Summary

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Official Symbol
RBMY1Eprovided by HGNC
Official Full Name
RNA binding motif protein Y-linked family 1 member Eprovided by HGNC
Primary source
HGNC:HGNC:23916
See related
Ensembl:ENSG00000242389 AllianceGenome:HGNC:23916
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 6.2) See more
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Genomic context

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Location:
Yq11.223
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (21902177..21918032, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (22737692..22753535, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (24049769..24064179, complement)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377237 Neighboring gene RNA binding motif protein Y-linked family 1 member D Neighboring gene RNA binding motif protein Y-linked family 2 member A, pseudogene Neighboring gene OFD1 pseudogene 8 Y-linked

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts. Tsuei DJ, et al. Oncogene, 2004 Jul 29. PMID 15184870
  2. Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. Prosser J, et al. Mamm Genome, 1996 Nov. PMID 8875892
  3. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Ma K, et al. Cell, 1993 Dec 31. PMID 8269511
  4. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Chai NN, et al. Genomics, 1998 Apr 15. PMID 9598316
  5. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Skaletsky H, et al. Nature, 2003 Jun 19. PMID 12815422

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
RNA-binding motif protein, Y chromosome, family 1 member E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001006118.3 → NP_001006118.2  RNA-binding motif protein, Y chromosome, family 1 member E

    See identical proteins and their annotated locations for NP_001006118.2

    Status: REVIEWED

    Source sequence(s)
    AC007322
    Consensus CDS
    CCDS35481.1
    UniProtKB/Swiss-Prot
    A6NCW6, A6NEG9, A6NEQ0, A6NKQ5, P0DJD4
    Related
    ENSP00000372105.2, ENST00000382659.7
    Conserved Domains (3) summary
    COG0724
    Location:1 → 189
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12382
    Location:7 → 85
    RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
    pfam08081
    Location:174 → 218
    RBM1CTR; RBM1CTR (NUC064) family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

    Range
    21902177..21918032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531494.4 → XP_011529796.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X2

    See identical proteins and their annotated locations for XP_011529796.1

    UniProtKB/Swiss-Prot
    P0DJD4
    Conserved Domains (3) summary
    COG0724
    Location:1 → 189
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12382
    Location:7 → 85
    RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
    pfam08081
    Location:174 → 218
    RBM1CTR; RBM1CTR (NUC064) family

  2. XM_011531495.2 → XP_011529797.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X3

    UniProtKB/TrEMBL
    B7ZMC0
    Conserved Domains (3) summary
    COG0724
    Location:1 → 189
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12382
    Location:7 → 85
    RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
    pfam08081
    Location:174 → 218
    RBM1CTR; RBM1CTR (NUC064) family

  3. XM_011531493.2 → XP_011529795.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X1

    UniProtKB/TrEMBL
    B7ZMC0, J3KPK3
    Related
    ENSP00000372104.4, ENST00000382658.5
    Conserved Domains (3) summary
    COG0724
    Location:1 → 189
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12382
    Location:7 → 85
    RRM_RBMX_like; RNA recognition motif in heterogeneous nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA recognition motif 1 (hRBMY), testis-specific heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) and similar proteins
    pfam08081
    Location:174 → 218
    RBM1CTR; RBM1CTR (NUC064) family

  4. XM_047442738.1 → XP_047298694.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    22737692..22753535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328305.1 → XP_054184280.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X6

  2. XM_054328306.1 → XP_054184281.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X7

  3. XM_054328304.1 → XP_054184279.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X5

    UniProtKB/TrEMBL
    J3KPK3

  4. XM_054328307.1 → XP_054184282.1  RNA-binding motif protein, Y chromosome, family 1 member E isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NEQ0.1 GenPept UniProtKB/Swiss-Prot:A6NEQ0

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